Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center-Reference-Cited by-同舟云学术

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

Published:2020-11 Issue:6 Volume:96 Page:710-716
ISSN:0021-7557
Container-title:Jornal de Pediatria
language:en
Short-container-title:Jornal de Pediatria

Author:

Magalhães Ana Paula Pereira Scholz de^ORCID,Burin Maira Graeff^ORCID,Souza Carolina Fischinger Moura de^ORCID,de Bitencourt Fernanda Hendges^ORCID,Sebastião Fernanda Medeiros^ORCID,Silva Thiago Oliveira^ORCID,Vairo Filippo Pinto e^ORCID,Schwartz Ida Vanessa Doederlein^ORCID

Funder

Fundo de Incentivo à Pesquisa e Eventos do Hospital de Clínicas de Porto Alegre

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II;Al Teneiji;Mol Genet Metab.,2017

2. Congenital disorders of glycosylation;Jaeken;Ann N Y Acad Sci.,2010

3. Congenital disorders of glycosylation (CDG): quo vadis?;Péanne;Eur J Med Genet.,2018

4. Screening and diagnosis of congenital disorders of glycosylation;Marklová;Clin Chim Acta.,2007

5. The carbohydrate-deficient glycoprotein syndromes: an overview;Jaeken;J Inherit Metab Dis.,1993

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Sensitivity of transferrin isoform analysis for PMM2-CDG;Molecular Genetics and Metabolism;2024-09

2. A complement C4–derived glycopeptide is a biomarker for PMM2-CDG;JCI Insight;2024-04-08

3. Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation;Molecular Genetics and Metabolism;2023-06

4. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

5. Missing heritability of Wilson disease: a search for the uncharacterized mutations;Mammalian Genome;2022-12-03